P35L (p.Pro35Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
P35L (p.Pro35Leu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs200740037
- ExAC rs200740037
- gnomAD rs200740037
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.27
- CADD 21.30
- PolyPhen-2 0.41
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available